Myriad Genetics presents positive results of new hereditary cancer test at 36th annual conference of NSGC

Sep 18 2017

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, today announced that two important studies will be featured in podium presentations at the 36th annual conference of the National Society of Genetic Counselors (NSGC) in Columbus, OH.

"We look forward to presenting our pioneering research at NSGC this year and bringing forward new innovations that are changing how a woman's risk of breast cancer is being managed and improving the lives of even more people," said Johnathan Lancaster, M.D., Ph.D., chief medical officer, Myriad Genetics. "We are particularly excited to present the results of a large study of our new hereditary cancer test, called riskScore, that we believe will help genetic counselors and doctors improve care for their unaffected patients who test negative for a hereditary mutation. We're also looking forward to presenting data from a study that evaluated variant reclassification in 1.4 million patients tested for hereditary cancer risk assessment over a 10 year period."

More information about the company's presentations can be found at: www.nsgc.org/conference. Follow Myriad on Twitter via @MyriadGenetics and stay informed about conference news and updates by using the hashtag #NSGC17.

myRisk^® Hereditary Cancer with riskScore™ Podium Presentation
Title: Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel.
Presenter: Elisha Hughes, Ph.D.
Date: Saturday, Sept. 16, 2017, 11:30—11:45 a.m.
Location: Platform Presentation, #1131

This study evaluated 86 single nucleotide polymorphisms (SNPs) as breast cancer risk factors through the validation of a polygenic residual risk score in large, consecutive cohorts of more than 17,205 women of European ancestry who tested negative for mutations in known breast cancer susceptibility genes. The results show that the 86 SNP residual risk score was highly predictive of breast cancer risk in unaffected women of European ancestry with a family cancer history who tested negative for germline mutations in known breast cancer risk genes (p<10-50). The clinical implementation of a residual risk score for women at risk for hereditary breast cancer may offer significant potential for the management of high-risk, unaffected women who test negative for monogenic mutations in breast cancer-risk genes.

"As healthcare providers our goal is to help patients understand their risk of breast cancer so that they personalize their medical care and live healthier lives. Women who have not yet developed cancer but have a family history of breast cancer should consider hereditary cancer testing with multi-gene panels," said Ora Gordon, M.D., medical director at the Center for Clinical Genetics & Genomics, Providence Health & Services Southern California. "Despite being at high familial risk for breast cancer, in reality, most patients will not carry a hereditary mutation in a breast cancer-risk gene, which doesn't mean they're risk free. For patients who test negative, there are other factors including SNPs, family history of cancer and personal factors that may increase the risk of breast cancer. The new riskScore test combines this data to provide patients with additional information about their individual risk for developing breast cancer in five years and over their lifetime to confirm whether high risk interventions are still needed despite negative single gene testing results. It can also provide reassurance that routine surveillance is appropriate despite having a family history. This is a much needed and long awaited advance in the personalization of breast cancer risk."

myRisk^® Hereditary Cancer Podium Presentation
Title: Variant Reclassification in a Clinical Cohort: A Decade of Experience.
Presenter: Nichole Brown, MS, CGC.
Date: Friday, Sept. 15, 2017, 3:15—3:30 p.m.
Location: Platform Presentation, #1394

This study assessed variant reclassification in 1.4 million patients tested for hereditary cancer risk assessment between 2006 and 2016. Of these, 96 percent were female, 52 percent were of European decent and the median age was 49 years. Approximately 56 percent had a personal history of cancer at the time of testing. Approximately 36,264 unique variants (mutations) were identified during testing and 293,496 total variants were reported. The results show that when a comprehensive classification approach is employed, variant re-classification is relatively common (~19 percent) in genetic testing for hereditary cancer risk.

"Accurate classification of genetic variants can significantly impact on clinical care of patients and highlights the need timely reclassification and notification. Our ultimate goal is to definitively classify all genetic mutations, which is why Myriad invests so heavily in variant classification research and through scientific collaborations and publications," said Lancaster.

"Importantly, Myriad's commitment to patients doesn't stop once we've given them a test result. We understand that science evolves and that's why we have a commitment to notify doctors when we learn new information that could affect patient care. We offer support to patients and their families that lasts a lifetime."

Source: https://myriad.com/investors/press-release-detail/?newsItemId=1040567